Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518856
rs1057518856
PKD1
5 0.882 0.240 16 2102397 missense variant A/T snv 0.700 0
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2004 2004
dbSNP: rs198389
rs198389
NPPB
10 0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2004 2004
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2018 2018